ClinVar for MedGen (Select 196551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068548	NM_000444.6(PHEX):c.1717G>A (p.Ala573Thr)	PHEX, PTCHD1-AS (A573T)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 3068325	NM_000444.6(PHEX):c.1005dup (p.Ser336fs)	PHEX (S336fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 3066367	NM_000444.6(PHEX):c.202del (p.Ser68fs)	PHEX (S68fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 3065587	NM_000444.6(PHEX):c.887T>C (p.Met296Thr)	PHEX (M296T)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 3024184	NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)	PHEX, PTCHD1-AS (V717G)	Single nucleotide variant (missense variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2671769	NM_000444.6(PHEX):c.1133T>G (p.Leu378Arg)	PHEX (L378R)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 2664984	NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala)	PHEX, PTCHD1-AS (G719A +1 more)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2664929	NM_000444.6(PHEX):c.1677_1680del (p.Phe560fs)	PHEX, PTCHD1-AS (F560fs)	Microsatellite (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2627120	NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)	PHEX, PTCHD1-AS (W603*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 2585572	NM_000444.6(PHEX):c.1482+1del	PHEX, PHEX-AS1	Deletion (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2581060	GRCh38/hg38 Xp22.11(chrX:22072604-22125554)x3	PHEX	Copy number gain	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2577444	NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)	PHEX, PTCHD1-AS (Y626*)	Duplication (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 2573409	NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)	PHEX, PTCHD1-AS (N643fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 2572637	NM_000444.6(PHEX):c.1474del (p.Leu492fs)	PHEX, PHEX-AS1 (L492fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2506512	NM_000444.6(PHEX):c.1701A>C (p.Arg567=)	PTCHD1-AS, PHEX	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2446435	NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs)	PHEX, PTCHD1-AS (T677fs)	Deletion (frameshift variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2445898	NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup	PHEX	Duplication	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2434681	NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)	PHEX, PTCHD1-AS (G649D)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GConflicting classifications of pathogenicity
Select item 2412819	NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)	PHEX (A84P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1806062	NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)	PHEX (I281R)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1805770	NM_000444.6(PHEX):c.1972dup (p.Arg658fs)	PHEX, PTCHD1-AS (R658fs)	Duplication (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1804025	NM_000444.6(PHEX):c.1303-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 1803102	NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)	PHEX, PTCHD1-AS (Q666fs)	Deletion (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1723340	NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup	PHEX	Duplication	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1705687	NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)	PHEX, PTCHD1-AS	Single nucleotide variant (stop lost +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 1705589	NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe)	PHEX (C406F)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1705285	NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)	PHEX, PTCHD1-AS (Q621*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1691842	NM_000444.6(PHEX):c.1174-3C>G	PHEX	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 1687473	NM_000444.6(PHEX):c.1479dup (p.Ala494fs)	PHEX, PHEX-AS1 (A494fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1686055	NM_000444.6(PHEX):c.2139del (p.Gln714fs)	PHEX, PTCHD1-AS (Q714fs)	Deletion (frameshift variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686054	NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile)	PHEX, PTCHD1-AS (S711I)	Single nucleotide variant (missense variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686053	NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs)	PHEX, PTCHD1-AS (P698fs)	Deletion (frameshift variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686050	NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)	PTCHD1-AS, PHEX (K614*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686049	NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter)	PHEX, PTCHD1-AS (Y593*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 1686048	NM_000444.6(PHEX):c.1769-1G>A	PHEX, PTCHD1-AS	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686047	NM_000444.6(PHEX):c.1718del (p.Ala573fs)	PHEX, PTCHD1-AS (A573fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686045	NM_000444.6(PHEX):c.1646-2A>C	PHEX, PTCHD1-AS	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686044	NM_000444.6(PHEX):c.1586+2T>G	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686043	NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del)	PHEX	Deletion (inframe_deletion)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686042	NM_000444.6(PHEX):c.1482dup (p.Ile495fs)	PHEX, PHEX-AS1 (I495fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686041	NM_000444.6(PHEX):c.1404+1G>C	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686040	NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter)	PHEX (W444*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686039	NM_000444.6(PHEX):c.1302+2T>A	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686038	NM_000444.6(PHEX):c.1266del (p.Phe422fs)	PHEX (F422fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686037	NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter)	PHEX (K348*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686036	NM_000444.6(PHEX):c.933+2T>A	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686035	NM_000444.6(PHEX):c.732+3_732+6del	PHEX	Deletion (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686034	NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)	PHEX (Y235*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686032	NM_000444.6(PHEX):c.673del (p.Ala225fs)	PHEX (A225fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686031	NM_000444.6(PHEX):c.664-1G>T	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686030	NM_000444.6(PHEX):c.535del (p.Val179fs)	PHEX (V179fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686029	NM_000444.6(PHEX):c.468del (p.Leu157fs)	PHEX (L157fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686028	NM_000444.6(PHEX):c.460A>T (p.Lys154Ter)	PHEX (K154*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686027	NM_000444.6(PHEX):c.436+4A>T	PHEX	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686026	NM_000444.6(PHEX):c.421T>C (p.Ser141Pro)	PHEX (S141P)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686025	NM_000444.6(PHEX):c.305G>T (p.Gly102Val)	PHEX (G102V)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 1686024	NM_000444.6(PHEX):c.254G>T (p.Cys85Phe)	PHEX (C85F)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 1686023	NM_000444.6(PHEX):c.200T>A (p.Leu67Ter)	PHEX (L67*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686022	NM_000444.6(PHEX):c.37_38del (p.Lys13fs)	PHEX (K13fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1686021	NM_000444.6(PHEX):c.3G>A (p.Met1Ile)	PHEX (M1I)	Single nucleotide variant (missense variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1685396	NM_000444.6(PHEX):c.187+1G>C	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1679897	NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs)	PHEX (R443fs)	Insertion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1679896	NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)	PHEX (A459E)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1676327	NM_000444.6(PHEX):c.350-1G>A	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1623547	NM_000444.6(PHEX):c.1587-16G>T	PHEX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1551108	NM_000444.6(PHEX):c.420A>G (p.Ser140=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GLikely benign
Select item 1516491	NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)	PHEX (D349G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1485864	NM_000444.6(PHEX):c.1426G>A (p.Val476Ile)	PHEX, PHEX-AS1 (V476I)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GUncertain significance
Select item 1455365	NM_000444.6(PHEX):c.1646-2A>G	PHEX, PTCHD1-AS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1366973	NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)	PHEX, PTCHD1-AS (Y622fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1342023	NM_000444.6(PHEX):c.142dup (p.Gln48fs)	PHEX (Q48fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1339456	NM_000444.6(PHEX):c.2071-1G>C	PTCHD1-AS, PHEX	Single nucleotide variant (splice acceptor variant +1 more)	Hypophosphatemic rickets +2 more	GPathogenic
Select item 1338987	NM_000444.6(PHEX):c.2008G>A (p.Glu670Lys)	PHEX, PTCHD1-AS (E670K)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 1275756	NM_000444.6(PHEX):c.2009A>T (p.Glu670Val)	PHEX, PTCHD1-AS (E670V)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 1210115	NM_000444.6(PHEX):c.433G>T (p.Glu145Ter)	PHEX (E145*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1202481	NM_000444.6(PHEX):c.1769-1G>C	PHEX, PTCHD1-AS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1166496	NM_000444.6(PHEX):c.82G>A (p.Gly28Ser)	PHEX (G28S)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 1075411	NM_000444.6(PHEX):c.1174-1G>A	PHEX	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1075410	NM_000444.6(PHEX):c.1173+1G>A	PHEX	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1074361	NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)	PHEX (E437*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1067658	NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)	PHEX (L275P)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GLikely pathogenic
Select item 1049289	NM_000444.6(PHEX):c.226C>G (p.Pro76Ala)	PHEX (P76A)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 1043581	NM_000444.6(PHEX):c.1876T>C (p.Tyr626His)	PHEX, PTCHD1-AS (Y626H)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GUncertain significance
Select item 1029848	NM_000444.6(PHEX):c.1966-1G>T	PHEX, PTCHD1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GConflicting classifications of pathogenicity
Select item 1013602	NC_000023.11:g.22243338_22690207del	CBLL2, LOC126863223 +5 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 998044	NM_000444.6(PHEX):c.613del (p.Arg205fs)	PHEX (R205fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 989452	NC_000023.11:g.22213388_22345581del	CBLL2, PHEX +1 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 977308	NM_000444.6(PHEX):c.645_652del (p.Asn216fs)	PHEX (N216fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 961838	NM_000444.6(PHEX):c.188-1G>C	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 961400	NM_000444.6(PHEX):c.934-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 961019	NM_000444.6(PHEX):c.649G>T (p.Glu217Ter)	PHEX (E217*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 948580	NM_000444.6(PHEX):c.1313del (p.Leu438fs)	PHEX (L438fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 948148	NM_000444.6(PHEX):c.208_212del (p.Val70fs)	PHEX (V70fs)	Microsatellite (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +2 more	GConflicting classifications of pathogenicity
Select item 946464	NM_000444.6(PHEX):c.118+1G>A	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 944842	NM_000444.6(PHEX):c.663G>A (p.Lys221=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 934768	NM_000444.6(PHEX):c.724del (p.Ala242fs)	PHEX (A242fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 915067	NM_000444.6(PHEX):c.*305G>A	PHEX, PTCHD1-AS	Single nucleotide variant (3 prime UTR variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GBenign
Select item 914542	NM_000444.6(PHEX):c.*58C>T	PTCHD1-AS, PHEX	Single nucleotide variant (3 prime UTR variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GBenign
Select item 914541	NM_000444.6(PHEX):c.2213C>T (p.Thr738Met)	PHEX, PTCHD1-AS (T738M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914540	NM_000444.6(PHEX):c.2068C>A (p.His690Asn)	PHEX, PTCHD1-AS (H690N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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